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Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Academic Article
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Overview

authors

  • Lohmann, K.
  • Masuho, I.
  • Patil, D. N.
  • Baumann, H.
  • Hebert, E.
  • Steinrucke, S.
  • Trujillano, D.
  • Skamangas, N. K.
  • Dobricic, V.
  • Huning, I.
  • Gillessen-Kaesbach, G.
  • Westenberger, A.
  • Savic-Pavicevic, D.
  • Munchau, A.
  • Oprea, G.
  • Klein, C.
  • Rolfs, A.
  • Martemyanov, Kirill

publication date

  • March 2017

journal

  • Human Molecular Genetics  Journal

subject areas

  • Child
  • Child, Preschool
  • Developmental Disabilities
  • Exome
  • Female
  • GTP-Binding Protein beta Subunits
  • Gene Expression Regulation, Developmental
  • Heterotrimeric GTP-Binding Proteins
  • Humans
  • Infant
  • Male
  • Mutation, Missense
  • Neurons
  • Protein Binding
  • Receptors, Dopamine D1
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Identity

International Standard Serial Number (ISSN)

  • 0964-6906

Digital Object Identifier (DOI)

  • 10.1093/hmg/ddx018

PubMed ID

  • 28087732
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Additional Document Info

start page

  • 1078

end page

  • 1086

volume

  • 26

issue

  • 6

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